ClinVar

NM_004336.5(BUB1):c.3035A>C (p.Glu1012Ala)

Gene:

BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

• Chr2: 110639769 (on Assembly GRCh38)
• Chr2: 111397346 (on Assembly GRCh37)

Preferred name:

NM_004336.5(BUB1):c.3035A>C (p.Glu1012Ala)

HGVS:

• NC_000002.12:g.110639769T>G
• NG_012048.1:g.43338A>C
• NG_012048.2:g.43294A>C
• NM_001278616.2:c.2975A>C
• NM_001278617.2:c.2864A>C
• NM_004336.5:c.3035A>CMANE SELECT
• NP_001265545.1:p.Glu992Ala
• NP_001265546.1:p.Glu955Ala
• NP_004327.1:p.Glu1012Ala
• NC_000002.11:g.111397346T>G
• NM_004336.3:c.3035A>C

This HGVS expression did not pass validation

Protein change:

E1012A

Molecular consequence:

• NM_001278616.2:c.2975A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278617.2:c.2864A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004336.5:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]